Literature DB >> 879119

Beckwith-Wiedemann syndrome in a mother and her son.

E Ben-Galim, E Gross-Kieselstein, A Abrahamov.   

Abstract

The Beckwith-Wiedemann syndrome--exomphalos, macroglossia and gigantism--occurred in a mother and her son. The clinical and metabolic features of this syndrome are described. We believe this is the first report of this syndrome affecting a mother and her son. An autosomal dominant pattern of inheritance is suggested.

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Year:  1977        PMID： 879119     DOI： 10.1001/archpedi.1977.02120200083019

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


  6 in total

1.  Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

Authors:  D Viljoen; R Ramesar
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

2.  Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature.

Authors:  M J Pettenati; J L Haines; R R Higgins; R S Wappner; C G Palmer; D D Weaver
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

3.  Monozygotic twins discordant for Wiedemann-Beckwith syndrome and the implications for genetic counselling.

Authors:  A C Berry; E M Belton; C Chantler
Journal:  J Med Genet       Date:  1980-04       Impact factor: 6.318

4.  Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome.

Authors:  R A Spritz; D Mager; R M Pauli; R Laxova
Journal:  Am J Hum Genet       Date:  1986-08       Impact factor: 11.025

5.  The Wiedemann-Beckwith syndrome in four sibs including one with associated congenital hypothyroidism.

Authors:  R Martínez y Martínez; R Ocampo-Campos; R Pérez-Arroyo; E Corona-Rivera; J M Cantú
Journal:  Eur J Pediatr       Date:  1985-01       Impact factor: 3.183

6.  Beckwith-wiedemann syndrome and neural crest tumors. A report of two cases.

Authors:  D Sirinelli; B Silberman; J J Baudon; P Sinnassamy; M Gruner; J P Montagne
Journal:  Pediatr Radiol       Date:  1989
  6 in total

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